1. Panels
  2. Intellectual disability syndromic and non-syndromic
  3. PEX14
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: PEX14

Green List (high evidence)
PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 13 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

ID/DD is part of the Zellweger spectrum

AD:
2 unrelated male patients with clinical features of mild ZSD (including mildly aberrant peroxisomal metabolite levels and aberrent VLCFA in fibroblasts) were found to have monoallelic de novo variants. Both variants affect splicing and result in the synthesis of similar C-terminally truncated PEX14 proteins. Functional studies showed that the truncated PEX14 proteins have a dominant-negative effect on peroxisome functioning.
Created: 14 Nov 2024, 1:09 a.m. | Last Modified: 14 Nov 2024, 1:09 a.m.
Panel Version: 0.6670

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887; peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Nov 2024, 1:09 a.m.
Last Modified: 14 Nov 2024, 1:09 a.m.
Panel version: 0.6670

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887
  • peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
OMIM
601791
Clinvar variants
Variants in PEX14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex14 has been classified as Green List (High Evidence).

14 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PEX14 were set to 37493040; 20301621

14 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PEX14 were changed from Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887; peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 to Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887; peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268

14 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887; peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268

14 Nov 2024, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: PEX14 were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PEX14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PEX14 was added gene: PEX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX14 was set to Unknown